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Pharmacogenomics

Understand how variations in the human genome affect our response to medications

Using pharmacogenomics to maximize the benefits of medications and reduce health care costs

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Pharmacogenomics (PGx) is the study of how variations in the human genome dictate a person’s response to medications. In one study, more than 99% of people assessed had a genotype associated with a higher risk to at least one medication.1 Pharmacogenomics research can lead to better outcomes for both individuals and healthcare providers through improved medication safety and efficacy and lowered medical costs.

By leveraging pharmacogenomics research, healthcare providers will ultimately be able to:

  • Maximize the intended use of a medication or treatment
  • Reduce adverse drug reactions
  • Speed time to achieving the therapeutic benefit of a drug
  • Decrease the chance of side effects or dependency

Use genomics to decrease the cost of healthcare expenditures by:

  • Identifying the most appropriate and affordable drug the first time
  • Reducing adverse drug reactions early in treatment, thus positively impacting: hospital length of stays, hospital readmissions, and emergency room visits

Importance of Pharmacogenomics

Pharmacogenomics and personalized medicine experts share their perspective on PGx and its current state in their respective countries.

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Pharmacogenomic Technologies

Advantages and Disadvantages of Various PGx Technologies2
Technology Advantages Disadvantages
Sanger Sequencing
  • Gold standard for confirming genetic variants
  • Time-consuming and cumbersome for large numbers of samples
Real-Time PCR
  • Amplification and interrogation happen in a single step
  • Focuses on variants of known significance
  • Good for interrogating low numbers of targets (e.g. 1-20)
  • Can't discover novel variants
  • Primers and probes are often proprietary
Microarrays
  • Can identify tens of thousands of PGx biomarkers in thousands of samples per week with high-throughput workflows
  • Good for clinical labs
  • Can detect both SNPs and CNVs
  • Can't discover novel variants (limited to variants included on the microarray)
  • High sample quality required for gene deletion and duplication analysis
Next-Generation Sequencing (NGS): Exome and Whole-Genome Sequencing
  • Can discover novel variants (including possible new PGx biomarkers)
  • Identifies variants of unknown significance and secondary findings that may not be pharmacogenomics-related
  • Exome sequencing can be difficult for hybrid genes and will miss variants outside of the exome
  • Bioinformatic analysis can be complex, which is aided by specialized software tools

Microarrays for PGx Biomarker Analysis

Microarrays have become an important tool in precision medicine, enabling clinical researchers to make significant advancements in the area of pharmacogenomics research. The Infinium Global Diversity Array with Enhanced PGx Content provides coverage of high-priority PGx genes, representing a major step forward:

  • Genome-wide coverage of >44k PGx biomarkers
  • Automated, scalable workflow with a 3-day turnaround time
  • >6k variants from PGx databases, including PharmGKB, CPIC, PharmVar, and ClinVar
  • ~500 CPIC variants available for interrogation, with >300 of them priority level A or B based on the strength of supporting clinical evidence3
  • High-impact, historically hard-to-discern PGx genes like CYP2D6, CYP2B6 and TPMT are now accessible due to workflow improvements that enable pseudogene disambiguation

Infinium Global Diversity Array with Enhanced PGx Content

Introducing the most comprehensive genotyping microarray on the market for pharmacogenomic research with >1.9M markers, access to high-impact PGx genes, and optional reporting software.

This trusted Infinium assay has been run on millions of samples, including use in the All of Us Research Program. It provides a cost-effective, end-to-end solution with star allele calling and metabolizer status reporting, allowing for consolidation of multiple assays onto a single chip.

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Hear from Pharmacogenomics Thought Leaders

Watch Video
Challenges of Implementing PGx in Clinical Practice

Experts discuss how easy-to-use clinical reports and broader public awareness may help integrate pharmacogenomics in clinicians' day-to-day practice.

Watch Video
Pharmacogenomics Applications and Future Vision

Experts review areas where pharmacogenomics can have the most impact such as psychiatry, oncology, pain medication, and drug interactions.

Scientists Discuss Pharmacogenomics Applications

Bringing Meaning to Genetic and PGx Information

MyDNA co-founder Allan Sheffield discusses development of a pharmacogenomics service and meaningful genetic test reports.

Genetic and PGx Data Matchmaking for Researchers

A biobank project helps scientists connect with those who wish to share their genetic data for research and have rare genetic variants associated with outcomes such as metabolizing certain medicines differently.

Scaling an Efficient Genotyping Facility

The cofounder of a company focused on pharmacogenomics, nutrigenomics, and chronic diseases discusses switching from real-time PCR to high-throughput genotyping microarrays and next-generation sequencing.

Personalized Medicine Based on Common and Rare Genetic Variants

Dr. Lili Milani discusses the personalized medicine initiative she’s leading at the Estonian Biobank. Dr. Milani and her esearch group have been using OMICS profiling data (including WGS, WES, and genotyping) from biobank participants to identify rare mutations, develop polygenic risk scores, and conduct pharmacogenomics studies.

The team is looking for genetic variants associated with adverse reactions to specific medications and studying how to translate existing genomic data into reports and prescription guidelines.

View Webinar
Implementing PGx in Healthcare

Dr. Tonu Esko describes the Estonian Biobank initiative and its efforts to implement pharmacogenomics at the national healthcare level. He talks about two ongoing pilot prevention programs for cardiovascular diseases and breast cancer.

His presentation covers collection of polygenic risk score data from biobank participants, ways of integrating pharmacogenomics screening programs into the clinical setting, and media strategies to sensitize public opinion among both the population and clinicians on the benefits of pharmacogenomics.

View Webinar

Identify Novel PGx Biomarkers

NGS-based whole-genome sequencing provides a high-resolution, base-by-base view of the entire genome, ideal for discovery applications such as novel biomarker identification.

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Featured Pharmacogenomics Research Publications

Clinical implementation of pharmacogenomics via a health system-wide research biobank: the University of Colorado experience
Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good
Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions
Economic burden of adverse drug reactions and potential for pharmacogenomic testing in Singaporean adults

Related Solutions

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Genetic & Rare Diseases

NGS technology is helping to drive breakthroughs in genetic disease testing by facilitating early detection and diagnosis.

Polygenic Risk Scores

Polygenic risk scores represent the total number of genetic variants an individual has that increase their risk of developing a particular disease.

Microbiome Analysis

Analyze the human microbiome with experimental techniques such as shotgun metagenomics, 16S rRNA metagenomics, and metatranscriptomics.

Neurogenomics

Genomic neuroscience research with next-generation sequencing and microarray tools is advancing our understanding of neurological diseases and the nervous system.

References
  1. Reisberg S et al. Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions. Genet Med. 2019 Jun;21(6):1345-1354.
  2. Catriona Hippman and Corey Nislow. Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges. J Pers Med. 2019 Sep; 9(3): 40.
  3. The FDA has evaluated a large number of pharmacogenetic associations and documented those in which sufficient evidence suggests a sub-population of people would exhibit altered drug metabolism. See Table of Pharmacogenetic Associations